Matchmaker Exchange

Matches individuals with rare disease by candidate gene and phenotypes to find gene-disease relationships

Matchmaker Exchange builds evidence for novel gene-disease relationships for rare disease. Case data often sit in isolated databases, so the project developed a federated platform (Exchange) to help match individuals with rare disease with the same candidate genes and similar phenotypic profiles. The Exchange relies on standardised application programming, including GA4GH products. There are over 14,900 candidate genes in the database from submissions from over 13,000 researchers that can be queried to find matches.